Additional file 1 of Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis

Supplementary Material 1: Table S1 ABCC6 Patient Database (Additional file 1 table S1.xlsx). All patients (N=95) and their ABCC6 genotype, demographics, diagnosis, survival outcome, and published phenotypes. ACA=anterior cerebral artery; AIS=arterial ischemic stroke; CNS=central nervous system; F=female; GACI= Generalized arterial calcification of infancy; HIE=Hypoxic ischemic encephalopathy; ICA=internal carotid artery; IVC=inferior vena cava; LCA=left main coronary artery; LA=left atrium; LV=left ventricle; M=male; MCA=middle cerebral artery; PCA=posterior cerebral artery; PDA=patent ductus arteriosus; PFO=patent foramen ovale; PICA=posterior inferior cerebellar artery; PPHN=persistent pulmonary hypertension of the newborn; PXE=pseudoxanthoma elasticum; RCA=right coronary artery; RV=right ventricle; VUS=variant of uncertain significance